Pompe disease in Austria: clinical, genetic and epidemiological aspects

Area of Science:

• Neurology
• Genetics
• Rare Diseases

Background:

• Pompe disease is a rare genetic disorder affecting muscle strength.
• Infantile-onset Pompe disease (IOPD) and late-onset Pompe disease (LOPD) have distinct clinical presentations and progression.
• Understanding the prevalence and clinical characteristics of Pompe disease in specific regions is essential for public health planning.

Purpose of the Study:

• To determine the prevalence of infantile and late-onset Pompe disease in Austria.
• To describe the clinical manifestations, genetic mutations, and diagnostic delays in Austrian Pompe disease patients.
• To evaluate the impact of enzyme replacement therapy (ERT) on disease progression in LOPD patients.

Main Methods:

• A survey of paediatric and neuromuscular centres in Austria was conducted.
• Anonymized clinical and genetic data from IOPD and LOPD patients were collected.
• Patient data, including those receiving alglucosidase alfa (ERT), were analyzed for prevalence, clinical features, and treatment outcomes.

Main Results:

• A prevalence of 1:350,914 was found, with 4 IOPD and 21 LOPD cases identified in 24 families.
• The most common LOPD presentation was a limb-girdle phenotype with axial weakness; three patients were asymptomatic with hyperCKemia.
• Diagnostic delay for LOPD averaged 7.4 years, and while ERT did not significantly alter forced vital capacity, a trend towards decline was observed in the 6-minute walk test.

Conclusions:

• The prevalence of Pompe disease in Austria is lower than in other European countries.
• Limb-girdle and axial weakness are characteristic of LOPD, and persistent hyperCKemia can be an early indicator.
• ERT appears to stabilize pulmonary function, but its effect on ambulation requires further investigation.